Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.Q44*
Back to variants list

ALPL

NM_000478.6:p.Q44*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.

Jiang M et al.

Frontiers in Genetics, 2025

40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1

Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults.

Shajani-Yi Z et al.

Bone, 2022

Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.

Tolusso LK et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."